ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)

dbSNP: rs2475235455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi RCV003236248 SCV003933709 pathogenic Ellis-van Creveld syndrome 2023-06-17 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005029950 SCV005658233 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-05-10 criteria provided, single submitter clinical testing

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